Overview
Spinocerebellar ataxia type 43 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal retropulsion test
Very frequent (80-99%)HP:0002172
Ataxia
Very frequent (80-99%)HP:0001251
Axonal neuropathy
Very frequent (80-99%)HP:0003477
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Distal upper limb muscle weakness
Very frequent (80-99%)HP:0008959
Appendicular ataxia
Frequent (30-79%)HP:0002070
Areflexia
Frequent (30-79%)HP:0001284
Cogwheel rigidity
Frequent (30-79%)HP:0002396
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Hypometric saccades
Frequent (30-79%)HP:0000571
Hyporeflexia
Frequent (30-79%)HP:0001265
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Inability to heel walk
Frequent (30-79%)HP:0009027
Loss of distal sensation
Frequent (30-79%)HP:0002936
Loss of large myelinated fibres
Frequent (30-79%)HP:0003387
Nerve damage causing decreased feeling and movement
Frequent (30-79%)HP:0007141
Pain
Frequent (30-79%)HP:0012531
Pectus carinatum
Frequent (30-79%)HP:0000768
Pes cavus
Frequent (30-79%)HP:0001761
Unsteady walk
Frequent (30-79%)HP:0002317
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Lower limb pain
Occasional (5-29%)HP:0012514
Muscle rigidity
Occasional (5-29%)HP:0002063
Palmomental reflex
Occasional (5-29%)HP:0030902
Progressive cerebellar ataxia
Occasional (5-29%)HP:0002073
Vermian atrophy
Occasional (5-29%)HP:0006855
Tremor
HP:0001337
Quick Facts
- SNOMED CT
- 1208516002
- UMLS CUI
- C4310763
- Fully Specified Name
- Spinocerebellar ataxia type 43 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.